Publications
Books
Farinha CM (2017) CFTR and Cystic Fibrosis - from structure to function. Springer Briefs in Molecular Structure. Springer International Publishing, Switzerland (ISBN: 978-3-319-65493-5 (print), 978-3-319-65494-2 (e-book), doi: 10.1007/978-3-319-65494-2)
Papers in peer-reviewed journals
Cruz DF, Donovan J, Hejenkowska ED, Mu F, Banerjee I, Kohn M, Farinha CM, Swiatecka-Urban A (2024) "LMTK2 switches on canonical TGF-b1 signaling in human bronchial epithelial cells", AJP Lung Physiol (accepted for publication).
Smith C, Chadwick HK, Hill K, Peckham DG; European Cystic Fibrosis Society Education Committee* (2024) "E-learning within the European cystic fibrosis society - A multidisciplinary cross-sectional survey" J Cyst Fibr, doi: 10.1016/j.jcf.2024.07.003. *As member of the ECFS Education Committee.
Farinha CM (2024) "Disrupting the TGF-b-Wnt Balance to Control the Polarity of the Cystic Fibrosis Airway Epithelium", Am J Respir Mol Cell Biol 71, 16-17.
Farinha CM*, Santos L, Ferreira JF (2024) "Cell type-specific regulation of CFTR Trafficking - on the verge of progress", Front Cell Dev Biol 12, 1338892. * corresponding author.
Mention K, Cavusoglu-Doran K, Joynt AT, Santos L, Sanz D, Eastman AC, Merlo C, Schwind EL, Scallan MF, Farinha CM, Cutting GR, Sharma N, Harrison PT (2023) "Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X", Hum Mol Genet. doi: 10.1093/hmg/ddad143.
Railean V, Rodrigues CS, Ramalho SS, Silva IAL, Farinha CM, Pankonien I, Amaral MD (2023) "Personalized Medicine: Function of CFTR Variant p.Arg334Trp is Rescued by Currently Available CFTR Modulators", Front Mol Biosci 10, 1155705. doi: 10.3389/fmolb.2023.1155705.
Santos L, Nascimento R, Duarte A, Railen V, Amaral MD, Harrison PT, Gama Carvalho M, Farinha CM (2023) "Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells", Cell Biosci 13, 26. doi: 10.1186/s13578-023-00975-y. IF: 7,5.
Zacarias S, Batista MSP, Ramalho SS, Victor BL, Farinha CM (2023) "Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction", Int J Mol Sci 24, 3211. doi: 10.3390/ijms24043211
Farinha CM, Brodsky JL, Pedemonte N (2023) "Fundamental and translational research in Cystic Fibrosis: why we still need it". J Cyst Fibros. doi: 10.1016/j.jcf.2022.12.010.
Ferreira JF, Silva IAL, Botelho HM, Amaral MD, Farinha CM (2022) "Absence of EPAC1 Signaling to Stabilize CFTR in Intestinal Organoids". Cells 11, 2295. doi: 10.3390/cells11152295.
Cuyx S, Ramalho SS, Callebaut I, Cuppens H, Kmit A, Arnauts K, Ferrante M, Verfaillie C, Ensinck M, Carlon MS, Boon M, Proesmans M, Dupont L, De Boeck K, Farinha CM, Vermeulen F, Ramalho AS (2022) "Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis." J Cyst Fibros 21, 644-651. doi: 10.1016/j.jcf.2022.05.013.
Farinha CM, Callebaut I (2022) "Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy". Biosci Rep 42, BSR20212006. doi: 10.1042/BSR20212006.
Lopes-Pacheco M, Bacalhau M, Ramalho SS, Silva IAL, Ferreira FC, Carlile GW, Thomas DY, Farinha CM, Hanrahan JW, Amaral MD (2022) "Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A" Cells 11:136. doi: 10.3390/cells11010136.
Ramalho SS, Silva IAL, Amaral MD, Farinha CM (2021) "Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies". Int J Mol Sci 23:24. doi: 10.3390/ijms23010024.
Farinha CM, Gentzsch M (2021) "Revisiting CFTR Interactions: Old Partners and New Players". Int J Mol Sci 22, 13196. doi: 10.3390/ijms222413196.
Clarke LA, Luz VCC, Targowski S, Ramalho SS, Farinha CM, Amaral MD (2021) "Integrity and Stability of PTC Bearing CFTR mRNA and Relevance to Future Modulator Therapies in Cystic Fibrosis" genes 12, 1810. doi: 10.3390/genes12111810.
Pereira C, Mazein A, Farinha CM, Gray MA, Kunzelmann K, Ostaszewski M, Balaur I, Amaral MD, Falcao AO (2021) "CyFi-MAP - an interactive pathway-based resource for Cystic Fibrosis" Sci Rep 11, 22223. doi: 10.1038/s41598-021-01618-3.
Santos LA, Mention K, Cavusoglu-Doran K, Sanz DJ, Bacalhau M, Lopes-Pacheco M, Harrison PT, Farinha CM (2021) "Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation", J Cyst Fibr. doi: 10.1016/j.jcf.2021.05.014.
Cruz DF, Mitash N, Farinha CM, Swiatecka-Urban A (2021) "Differential gene expression analysis reveals global LMTK2 regulatory network and its role in TGF-b1 signaling", Front Oncol 11, 596861. doi: 10.3389/fonc.2021.596861
Ferreira V, Oliveira B, D'Onofrio A, Farinha CM, Gano L, Paulo A, Bernardes G, Mendes F (2021) "In vivo pretargeting based on cysteine-selective antibody modification with IEDDA bioorthogonal handles for click chemistry", Bioconjug Chem 32, 121-132. doi: 10.1021/acs.bioconjchem.0c00551.
Silva IAL, Dousova T, Centeio R, Ramalho SS, Clarke LA, Holubova A, Valaskova I, Farinha CM, Kunzelmann K, Amaral MD (2020) "Organoids as a Personalized Medicine Tool for Ultra-Rare Mutations in Cystic Fibrosis: the Case of S955P and 1717-2A>G", BBA Mol Bas Dis. doi: 10.1016/j.bbadis.2020.165905.
Santos JD, Pinto FR, Amaral MD, Zaccolo M, Farinha CM (2020) "Cytoskeleton regulators CAPZA2 and INF2 associate with CFTR to control its membrane levels under EPAC1 activation". Biochem J. doi: 10.1042/BCJ20200287.
Uliyakina I, Da Paula AC, Afonso S, Lobo MJ, Felicio V, Botelho HM, Farinha CM, Amaral MD (2020) "Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators can be Achieved by Removal of Two Unique Regulatory Regions". Int J Mol Sci. 21, 4524; doi:10.3390/ijms21124524.
Farinha CM (2020) "From disease mechanisms to novel therapies and back". J Cyst Fibros. doi: 10.1016/j.jcf.2020.06.014
Ferreira VFC, Correia JDG, Farinha CM, Mendes F (2020) "Improved Fmoc-solid-phase peptide synthesis of an extracellular loop of CFTR for antibody selection by the phage display technology". J Pept Sci e3253. doi: 10.1002/psc.3253
Carapeto AP, Vitorino MV, Santos JD, Ramalho SS, Robalo T, Rodrigues MS, Farinha CM (2020) "Mechanical properties of human bronchial epithelial cells expressing wt- and mutant CFTR". Int J Mol Sci 21, E2916. doi: 10.3390/ijms21082916
Cottrill KA, Farinha CM, McCarty NA (2020) "The Bidirectional Relationship Between CFTR and Lipids". Commun Biol 3, 179. doi: 10.1038/s42003-030-0909-1.
Cruz DF, Mitash N, Farinha CM, Swiatecka-Urban A (2020) "TGF-b1 augments the apical membrane abundance of Lemur tyrosine kinase 2 to inhibit CFTR-mediated chloride transport in human bronchial epithelia". Front Cell Dev Biol 8, 58. doi: 10.3389/fcell.2020.00058.
Callebaut I, Mense M, Farinha CM (2020) "Exploring the basic mechanism in Cystic Fibrosis: promoting data presentation and discussion at the 16th ECFS Basic Science Conference". J Cyst Fibros. doi: 10.1016/j.jcf.2019.12.013.
Farinha CM (2019) "Omics in CF - Where are we now?"". J Cyst Fibros 18, 443-444. doi: 10.1016/j.jcf.2019.05.016.
Loureiro CA, Santos JD, Matos AM, Jordan P, Matos P, Farinha CM, Pinto FR (2019) "Network Biology Identifies Novel Regulators of CFTR Trafficking and Membrane Stability". Front Pharmacol 10, 619. doi: 10.3389/fphar.2019.00619.
Santos JD, Canato S, Carvalho AS, Botelho HM, Aloria K, Amaral MD, Matthiesen R, Falcao AO, Farinha CM. (2019) "Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum". Cells 8, 353. doi: 10.3390/cells8040353.
Cruz DF, Farinha CM, Swiatecka-Urban A (2019) "Unraveling the Function of Lemur Tyrosine Kinase 2 Network". Front Pharmacol 10, 24. doi: 10.3389/fphar.2019.00024.
Awatade NT, Ramalho S, Silva IAL, Felicio V, Botelho HM, de Poel E, Vonk A, Beekman JM, Farinha CM, Amaral MD (2019) "R560S: A class II CFTR mutation that is not rescued by current modulators". J Cyst Fibros 18, 182-189. doi: 10.1016/j.jcf.2018.07.001.
Canato S, Santos JD, Carvalho AS, Aloria K, Amaral MD, Matthiesen R, Falcao AO, Farinha CM (2018) "Proteomic interaction profiling reveals KIFC1 as a factor involved in early targeting of F508del-CFTR to degradation". Cell Mol Life Sci 75, 4495-4509. doi: 10.1007/s00018-018-2896-7.
Ferreira VFC, Oliveira BL, Santos JD, Correia JDG, Farinha CM, Mendes F (2018) "Targeting of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Protein with a Technetium-99m Imaging Probe". ChemMedChem 13, 1469-1478. doi: 10.1002/cmdc.201800187.
Liu J, Bihler H, Farinha CM, Awatade NT, Romao AM, Mercadante D, Cheng Y, Musisi I, Jantarajit W, Wang Y, Cai Z, Amaral MD, Mense M, Sheppard DN (2018) "Partial rescue of F508del-cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual-acting small molecule". Br J Pharmacol 175, 1017-1038. doi: 10.1111/bph.14141.
Farinha CM, Miller E, McCarty N (2019) "Protein and lipid interactions - Modulating CFTR trafficking and rescue". J Cyst Fibros 17, S9-S13. doi: 10.1016/j.jcf.2017.08.014.
Farinha CM, Matos P (2018) "Rab GTPases regulate the trafficking of channels and transporters - a focus on cystic fibrosis". Small GTPases 9, 136-144. doi: 10.1080/21541248.2017.1317700.
Farinha CM, Canato S (2017) "From the endoplasmic reticulum to the plasma membrane: mechanisms of CFTR folding and trafficking". Cell Mol Life Sci 74, 39-55. doi: 10.1007/s00018-016-2387-7.
Amaral MD, Farinha CM, Matos P, Botelho HM (2016) "Investigating Alternative Transport of Integral Plasma Membrane Proteins from the ER to the Golgi: Lessons from the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)". Methods Mol Biol 1459, 105-126.
Lobo MJ, Amaral MD, Zaccolo M, Farinha CM (2016) "EPAC1 activation by cAMP stabilizes CFTR at the membrane by promoting its interaction with NHERF1". J Cell Sci 129, 2599-2612.
Farinha CM, Swiatecka-Urban A, Brautigan DL, Jordan P (2016) "Regulatory Crosstalk by Protein Kinases on CFTR Trafficking Activity". Front Chem doi: 10.3389/fchem.2016.00001. eCollection
Farinha CM, Matos P (2015) "Rescuing the basic defect in cystic fibrosis - one approach is not enough". FEBS J 283, 246-264
Farinha CM, Sousa M, Canato S, Schmidt A, Uliyakina I, Amaral MD (2015) "Increased efficacy of VX-809 in different cellular systems results from an early stabilization effect of F508del-CFTR". Pharmacol Res Perspect 3, e00152.
Awatade NT, Uliyakina I, Farinha CM, Clarke LA, Mendes K, Solé A, Pastor J, Ramos MM, Amaral MD (2015) "Measurements of functional responses in Human primary lung cells as a basis for personalized therapy for cystic fibrosis". EBioMedicine 2,147-153.
Luz S, Cihil KM, Brautigan DL, Amaral MD, Farinha CM*, Swiatecka-Urban A (2014) "LMTK2 Mediated Phosphorylation Regulates CFTR Endocytosis in Human Airway Epithelial Cells". J Biol Chem 289, 15080-15093. *co-last author
Xu Z, Pissarra LS, Farinha CM, Liu J, Cai Z, Thibodeau PH, Amaral MD, Sheppard DN (2014) "The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Revertant Mutation 4RK Confers ATP-Dependence on the Cystic Fibrosis Mutant G551D without Rescuing Its Gating Defect". J Physiol 592, 1931-1947.
Farinha CM, King-Underwood J, Sousa M, Correia AR, Henriques MJ, Roxo-Rosa M, Da Paula AC, Williams J, Hirst S, Gomes CM, Amaral MD (2013) “Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction”. Chem Biol 20, 943-955.
Farinha CM, Matos P, Amaral MD (2013) "Control of CFTR membrane trafficking: not just from the ER to the Golgi". FEBS J 280, 4396-4406.
Amaral MD, Farinha CM (2013) "CFTR Post-translational Modifications and Signalling: Lessons from a Model Protein and Roles in Cystic Fibrosis Disease". FEBS J 280, 4395.
Amaral MD, Farinha CM (2013) "Rescuing mutant CFTR: a multi-task approach to a better outcome in treating Cystic Fibrosis". Curr Pharm Des 19, 3497-3508.
Tosoni K, Stobbart M, Cassidy DM, Venerando A, Pagano MA, Luz S, Amaral MD, Kunzelmann K, Pinna LA, Farinha CM, Mehta A (2013) "CFTR mutations altering CFTR fragmentation". Biochem J 449, 295-305.
Mendes F,
Farinha CM, Felicio V, Alves PC, Vieira I, Amaral MD (2012) "BAG-1
stabilizes mutant F508del-CFTR in a Ubiquitin-Like Domain-dependent manner".
Cell Phys Biochem
30, 1120-1133.
Faria D, Lentze N, Almaca J, Luz S, Alessio L, Tian Y, Martins JP, Cruz P,
Schreiber R, Rezwan M, Farinha CM, Auerbach D, Amaral MD, Kunzelmann K
(2012) "Regulation
of ENaC biogenesis by the stress response protein".
Pflugers Arch
463, 819-827.
Luz S,Kongsuphol
P,
Mendes AI, Romeiras F, Sousa M, Schreiber R, Matos P, Jordan P, Mehta A, Amaral MD,
Kunzelmann K,
Farinha CM
(2011)
"The contribution of CK2 and spleen tyrosine kinase (SYK) to CFTR trafficking
and PKA-induced activity".
Mol Cell Biol
31,
4392-4404.
Mendes AI, Matos P, Moniz S, Luz S, Amaral MD,
Farinha CM, Jordan P (2011)
"Antagonistic Regulation of Cystic Fibrosis Transmembrane Conductance Regulator
Cell Surface Expression by Protein Kinases WNK4 and
Spleen Tyrosine Kinase".
Mol Cell Biol
31, 4076-4086.
Ramalho AS, Lewandowska M, Farinha CM, Mendes F, Gonçalves J, Barreto C, Harris A, Amaral MD (2009) "Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients".
Cell Physiol Biochem 24, 335-346.
Pissarra LS, Farinha CM*, Xu Z, Schmidt A et al (2008) “Solubilizing mutations used to crystallize one CFTR domain attenuate the trafficking and channel defects caused by the major cystic fibrosis mutation”.
Chem Biol 15, 62-69.
*co-1st author
Farinha CM, Ponces Freire A (2007) “Teaching Biochemistry at Lisbon University - facing the challenge of the Bologna Declaration in the 25th anniversary of the Biochemistry Course”.
Biochem Mol Biol Educ (BAMBED) 35, 422-424.
Da Paula AC, Ramalho A, Farinha CM, Maurisse R et al (2005) “Characterization of a Novel Airway Submucosal Gland Cellular Model for Cystic Fibrosis Studies”.
Cell Physiol Biochem 15, 251-262.
Farinha CM, Amaral MD (2005) “Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin”.
Mol Cell Biol 25, 5242-5252.
Farinha CM, Mendes F, Roxo Rosa M, Penque D et al (2004) “A Comparison of 14 Antibodies for the Biochemical Detection of the Cystic Fibrosis Transmembrane Conductance Regulator Protein”.
Mol Cell Probes 18, 235-42.
Farinha CM, Penque D, Roxo-Rosa M, Lukacs G et al (2004) “Biochemical methods to assess CFTR expression and membrane localization” J Cystic Fibrosis 3 (Suppl 2), 73-77.
Mendes F, Farinha CM, Roxo-Rosa M, Fanen P et al (2004) “Antibodies for CFTR studies”
J Cystic Fibrosis 3 (Suppl 2), 69-72.
Trezise AEO, Farinha CM, Heda GD, Harris A, Amaral MD, Mouchel N (2004) "Non-PCR Methods for the Analysis of CFTR
transcripts" J Cystic Fibrosis 3 (Suppl 2), 25-28.
Ramalho AS, Beck S, Farinha CM, Clarke LA et al (2004) "Methods for RNA extraction, cDNA preparation and analysis of CFTR
Transcripts" J Cystic Fibrosis 3 (Suppl 2), 11-15.
Férec C, Le Maréchal C, Audrézet MP,
Farinha CM et al (2004) "Analysis of Genomic CFTR DNA" J Cystic Fibrosis
3 (Suppl 2), 7-10.
Mendes F, Roxo Rosa M, Dragomir A, Farinha CM et al (2003) “Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein”.
Biochem Biophys Res Comm 311, 665-671.
Farinha CM, Alves PC, Garcia S, Penque D et al (2002) “The Human DnaJ homologue (Hdj)-1/heat shock protein (Hsp) 40 is required for the in vivo stabilization of the cystic fibrosis transmembrane
conductance regulator by Hsp70 ”. Biochem J 366, 797-806.
Amaral MD, Pacheco P, Beck S, Farinha CM et al (2001) “Cystic Fibrosis Patients with the 3272-26A>G Splicing Mutation Have Milder Disease than F508del-Homozygotes: A Large European Study”.
J Med Genet 38, 777-782.
Penque D, Mendes F, Beck S, Farinha CM et al (2000) “Cystic Fibrosis F508del-patients have apically localized CFTR in a reduced number of airway cells”.
Lab Invest 80, 857-68.
Beck S, Penque D, Garcia S, Gomes A, Farinha CM et al (1999) “Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane”.
Hum Mut 14, 133-14.